کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814657 1569541 2007 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata
چکیده انگلیسی

X-linked dominant chondrodysplasia punctata (Conradi–Hünermann disease, CDPX2) is characterised by short stature, stippled epiphyses, cataracts, ichthyosiform erythroderma and patchy alopecia of the scalp. The disorder is caused by mutations within the emopamil binding protein (EBP) gene encoding a 3β-hydroxysteroid-Δ8,Δ7-isomerase. The intrafamilial variation of disease severity is a known feature of CDPX2 probably caused by skewed X-inactivation.We report on a female fetus with typical symptoms of CDPX2 such as short limbs, postaxial polydactyly, ichthyotic skin lesions and punctate calcifications. Molecular genetic analysis of the EBP gene revealed a nonsense mutation (c.328C > T, p.R110X), which was previously detected in one CDPX2 patient and in a second female patient, who was only affected on one body side and erroneously diagnosed as CHILD syndrome. Surprisingly, the mother of our fetus carries the same mutation without having any signs of CDPX2. X-inactivation studies did not reveal any evidence of skewing neither in the mother nor in the fetus.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 50, Issue 5, September–October 2007, Pages 392–398
نویسندگان
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